Novel variation and <i>de novo </i>mutation rates in population-wide <i>de novo</i> assembled Danish trios

Building a population-specific catalogue of single nucleotide variants (SNVs), indels and structural variants (SVs) with frequencies, termed a national pan-genome, is critical for further advancing clinical and public health genetics in large cohorts. Here we report a Danish pan-genome obtained from sequencing 10 trios to high depth (50 × ). We report 536k novel SNVs and 283k novel short indels from mapping approaches and develop a population-wide de novo assembly approach to identify 132k novel indels larger than 10 nucleotides with low false discovery rates. We identify a higher proportion of indels and SVs than previous efforts showing the merits of high coverage and de novo assembly approaches. In addition, we use trio information to identify de novo mutations and use a probabilistic method to provide direct estimates of 1.27e−8 and 1.5e−9 per nucleotide per generation for SNVs and indels, respectively

Five insights from the Global Burden of Disease Study 2019

The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2019 provides a rules-based synthesis of the available evidence on levels and trends in health outcomes, a diverse set of risk factors, and health system responses. GBD 2019 covered 204 countries and territories, as well as first administrative level disaggregations for 22 countries, from 1990 to 2019. Because GBD is highly standardised and comprehensive, spanning both fatal and non-fatal outcomes, and uses a mutually exclusive and collectively exhaustive list of hierarchical disease and injury causes, the study provides a powerful basis for detailed and broad insights on global health trends and emerging challenges. GBD 2019 incorporates data from 281 586 sources and provides more than 3.5 billion estimates of health outcome and health system measures of interest for global, national, and subnational policy dialogue. All GBD estimates are publicly available and adhere to the Guidelines on Accurate and Transparent Health Estimate Reporting. From this vast amount of information, five key insights that are important for health, social, and economic development strategies have been distilled. These insights are subject to the many limitations outlined in each of the component GBD capstone papers.Peer reviewe

Vagal modulation of 1-month-old infants to auditory stimuli is associated with self-regulatory behavior

During infancy, cardiac vagal modulation has been associated with attentional and social engagement behaviors. While studies have shown that infants display a behavioral repertoire that enables them to interact with others by being able to regulate themselves in order to attend to and to discriminate emotional and social cues, vagal modulation to sensory stimuli and its association with behavioral outcomes at early ages remains to be addressed. In this study, we analyzed the cardiac vagal response of 1-month-old infants to two auditory stimuli intensities and whether vagal response was associated with social interactive and self-regulatory abilities. Therefore, we recorded cardiac and respiratory physiological responses in 28 infants using a Biopac System. Neurobehavioral assessment was performed using the Neonatal Behavioral Assessment Scale. We observed increased respiratory sinus arrhythmia (RSA) amplitude to both auditory stimuli intensities when compared to baseline. No intensity effect was found for the RSA response. Additionally, we observed that higher RSA amplitude to both auditory stimuli was positively correlated with adjusted self-regulatory behaviors, suggesting a convergence between multiple measures assessing infants’ state regulation. Results are discussed in light of 1-month-old infants’ auditory stimuli processing and its implications for regulatory behaviors and the emergent social-like behaviors.Foremost, we thank all the families and infants who participated in this study. We would like to thank Pedro Hispano Hospital, particularly to Dr. J. Lopes dos Santos, for all the kindness throughout the time that we were there for the data collection process. We thank Maria de Gois-Eanes for all the help and knowledge and Santiago Galdo-Alvarez for the contributions to this study. Furthermore, we thank Associaç ~ao Viver a Ciencia for the Sim- ^ biontes prize in 2013. This work was supported by Fundaç~ao Bial (grant number 42/08) and financed by Fundaç~ao para a Ciencia e Tecnologia (FCT) under a PhD grand (reference SFRH/BD/68263/2010).info:eu-repo/semantics/publishedVersio

Validation of the spanish version of the Rhinoplasty Outcome Evaluation Rinoplastía: Resultados desde la perspectiva del paciente. validación lingüística y psicométrica del rhinoplasty Outcome Evaluation Instrument

Background: The Rhinoplasty Outcome Evaluation is a questionnaire that assesses, form the point of view of the patient, the functional and cosmetic outcome of rhinoplasty. It has six items for esthetic and functional domains, using Likert type questions with five alternatives. The scale ranges from 6 that is the worst outcome to 30, the best. Aim: To translate and validate the Rhinoplasty Outcome Evaluation, to be used in Chile. Material and Methods: The linguistic validation guidelines of the MAPI/TRUST Research Institute were used. The instrument was translated from English to Spanish, counter translated and applied to a pilot sample of five patients. The internal stability was assessed using Cronbach alpha. Results: The five female patients in whom the questionnaire was applied were aged 22 ± 4 years, had 15 ± 2 years of studies and their body mass index was 23 ± 4 kg/m2. Cronbach alpha was 84%. The scale changed from 10 points in the preoperative period to 17 points in the postope